CCKAR (cholecystokinin A receptor)

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Gene: CCKAR (cholecystokinin A receptor) Homo sapiens

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Symbol:

CCKAR

Name:

cholecystokinin A receptor

RGD ID:

731770

HGNC Page

HGNC:1570

Description:

Enables cholecystokinin receptor activity and peptide hormone binding activity. Involved in cholecystokinin signaling pathway. Located in cytosol; nucleoplasm; and plasma membrane. Implicated in obesity. Biomarker of cholelithiasis; pancreatic cancer; and pancreatic ductal carcinoma.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

CCK-1R; CCK-A; CCK-A receptor; CCK-AR; CCK1-R; CCK1R; CCKRA; cholecystokinin receptor type A; cholecystokinin type 1 receptor; cholecystokinin type-A receptor; cholecystokinin-1 receptor

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Cckar (cholecystokinin A receptor)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Cckar (cholecystokinin A receptor)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Cckar (cholecystokinin A receptor)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	CCKAR (cholecystokinin A receptor)	NCBI	Ortholog
Canis lupus familiaris (dog):	CCKAR (cholecystokinin A receptor)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Cckar (cholecystokinin A receptor)	NCBI	Ortholog
Sus scrofa (pig):	CCKAR (cholecystokinin A receptor)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	CCKAR (cholecystokinin A receptor)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Cckar (cholecystokinin A receptor)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Cap2 (cyclase associated actin cytoskeleton regulatory protein 2)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Cckar (cholecystokinin A receptor)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Cckar (cholecystokinin A receptor)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	cckar (cholecystokinin A receptor)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	CCKLR-17D3	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	ckr-2	Alliance	DIOPT (Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	CCKLR-17D1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|SonicParanoid)
Caenorhabditis elegans (roundworm):	ckr-1	Alliance	DIOPT (Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PhylomeDB)
Xenopus laevis (African clawed frog):	cckar.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	cckar	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	cckar.S	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	4	26,481,396 - 26,490,484 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	26,481,396 - 26,490,484 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	26,483,018 - 26,492,106 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	26,092,116 - 26,101,140 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	4	26,159,286 - 26,168,311	NCBI
Celera	4	26,934,075 - 26,943,099 (-)	NCBI		Celera
Cytogenetic Map	4	p15.2	NCBI
HuRef	4	25,821,291 - 25,830,315 (-)	NCBI		HuRef
CHM1_1	4	26,484,379 - 26,493,404 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	4	26,466,670 - 26,475,758 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

alcohol use disorder (EXP)

cholelithiasis (IEP)

Gallbladder Neoplasms (EXP)

Hallucinations (IAGP)

obesity (IAGP,ISO)

pancreatic cancer (IEP,ISO)

pancreatic ductal carcinoma (IEP)

type 2 diabetes mellitus (ISO)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,1-dichloroethene (ISO)

17beta-estradiol (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

3H-1,2-dithiole-3-thione (ISO)

4,4'-sulfonyldiphenol (ISO)

ammonium chloride (ISO)

arsane (EXP)

arsenic atom (EXP)

benzo[a]pyrene (EXP)

Benzo[ghi]perylene (ISO)

bisphenol A (ISO)

bisphenol F (ISO)

bleomycin A2 (ISO)

camostat (ISO)

carbon nanotube (ISO)

copper atom (ISO)

copper(0) (ISO)

cyclosporin A (EXP)

devazepide (EXP)

dibutyl phthalate (ISO)

dioxygen (ISO)

fenvalerate (ISO)

flavonoids (ISO)

fulvestrant (ISO)

gallic acid (ISO)

genistein (ISO)

GW 4064 (ISO)

isoliquiritigenin (ISO)

kaempferol (ISO)

lead diacetate (ISO)

picrotoxin (ISO)

pirinixic acid (ISO)

quercetin (ISO)

resveratrol (ISO)

sodium arsenite (ISO)

titanium dioxide (ISO)

triptonide (ISO)

valproic acid (EXP,ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

animal organ regeneration (ISO)

axonogenesis (IEA,ISO)

cellular response to hormone stimulus (IBA,ISO)

cholecystokinin signaling pathway (IDA)

eating behavior (ISO)

feeding behavior (ISO)

forebrain development (IEA,ISO)

G protein-coupled receptor signaling pathway (IBA,IEA)

gastric acid secretion (ISO)

insulin secretion (ISO)

neuron migration (IEA,ISO)

pancreas development (ISO)

phospholipase C-activating G protein-coupled receptor signaling pathway (TAS)

positive regulation of cytosolic calcium ion concentration (ISO)

positive regulation of somatostatin secretion (ISO)

reduction of food intake in response to dietary excess (ISO)

regulation of calcium ion transport (ISO)

regulation of hormone secretion (IBA)

regulation of potassium ion transport (ISO)

response to glucocorticoid (ISO)

response to lipopolysaccharide (ISO)

response to nutrient (ISO)

response to starvation (ISO)

response to steroid hormone (ISO)

temperature homeostasis (ISO)

Cellular Component

cytosol (IDA)

endosome (ISO)

membrane (IDA,IEA)

nucleoplasm (IDA)

plasma membrane (IDA,IEA,TAS)

terminal bouton (ISO)

Molecular Function

cholecystokinin receptor activity (IBA,IDA,IEA,ISO,TAS)

G protein-coupled receptor activity (IEA)

peptide hormone binding (IPI)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Auditory hallucination (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Correlation between gene expression of CCK-A receptor and emptying dysfunction of the gallbladder in patients with gallstones and diabetes mellitus.	Ding X, etal., Hepatobiliary Pancreat Dis Int. 2005 May;4(2):295-8.
2.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
3.	Human cholecystokinin type A receptor gene: cytogenetic localization, physical mapping, and identification of two missense variants in patients with obesity and non-insulin-dependent diabetes mellitus (NIDDM).	Inoue H, etal., Genomics 1997 Jun 1;42(2):331-5.
4.	Cholecystokinin-A receptor messenger RNA expression in human pancreatic cancer.	Moonka R, etal., J Gastrointest Surg. 1999 Mar-Apr;3(2):134-40.
5.	Hyperphagia and obesity in OLETF rats lacking CCK-1 receptors.	Moran TH and Bi S, Philos Trans R Soc Lond B Biol Sci. 2006 Jul 29;361(1471):1211-8.
6.	Disordered food intake and obesity in rats lacking cholecystokinin A receptors.	Moran TH, etal., Am J Physiol. 1998 Mar;274(3 Pt 2):R618-25.
7.	Distribution of CCK1 and CCK2 receptors in normal and diseased human pancreatic tissue.	Reubi JC, etal., Gastroenterology. 2003 Jul;125(1):98-106.
8.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
10.	Cholecystokinin, cholecystokinin-A receptor and cholecystokinin-B receptor gene polymorphisms in Parkinson's disease.	Wang J, etal., Pharmacogenetics. 2003 Jun;13(6):365-9.
11.	The CCK-A receptor gene possibly associated with auditory hallucinations in schizophrenia.	Wei J and Hemmings GP, Eur Psychiatry 1999 Apr;14(2):67-70.
12.	Cholecystokinin A and B receptors are differentially expressed in normal pancreas and pancreatic adenocarcinoma.	Weinberg DS, etal., J Clin Invest. 1997 Aug 1;100(3):597-603.
13.	Overexpression of messenger RNA for cholecystokinin-A receptor and novel expression of messenger RNA for gastrin (cholecystokinin-B) receptor in azaserine-induced rat pancreatic carcinoma.	Zhou W, etal., Carcinogenesis. 1993 Oct;14(10):2189-92.

Additional References at PubMed

PMID:7557108	PMID:7759110	PMID:8343165	PMID:8503909	PMID:9006937	PMID:9603948	PMID:10026437	PMID:10400673	PMID:10555959	PMID:10595537	PMID:10682840	PMID:10893485
PMID:11300760	PMID:11368834	PMID:11495676	PMID:11549403	PMID:11730982	PMID:12198366	PMID:12424565	PMID:12477932	PMID:12627462	PMID:12801592	PMID:14534299	PMID:14691070
PMID:15100163	PMID:15108185	PMID:15313848	PMID:15340101	PMID:15363473	PMID:15489334	PMID:15632187	PMID:15634012	PMID:15723764	PMID:15740988	PMID:15786550	PMID:15927089
PMID:16362631	PMID:16754659	PMID:17413443	PMID:17413452	PMID:17457313	PMID:17597711	PMID:17944886	PMID:18444993	PMID:18577758	PMID:18583979	PMID:18776046	PMID:18832011
PMID:18996102	PMID:19086053	PMID:19751565	PMID:19753663	PMID:19760980	PMID:19874574	PMID:19913121	PMID:20023595	PMID:20351714	PMID:20424473	PMID:20468064	PMID:20535329
PMID:20538960	PMID:20558763	PMID:20602615	PMID:20628086	PMID:20732371	PMID:21728335	PMID:21813391	PMID:21873635	PMID:22021636	PMID:22396142	PMID:22825913	PMID:23341962
PMID:23701593	PMID:24825903	PMID:24914377	PMID:25025063	PMID:25875176	PMID:26508021	PMID:26551933	PMID:26608796	PMID:27072272	PMID:27287528	PMID:33050050	PMID:34086670
PMID:34556862	PMID:39083706

Genomics

Comparative Map Data

CCKAR
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	4	26,481,396 - 26,490,484 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	26,481,396 - 26,490,484 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	26,483,018 - 26,492,106 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	26,092,116 - 26,101,140 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	4	26,159,286 - 26,168,311	NCBI
Celera	4	26,934,075 - 26,943,099 (-)	NCBI		Celera
Cytogenetic Map	4	p15.2	NCBI
HuRef	4	25,821,291 - 25,830,315 (-)	NCBI		HuRef
CHM1_1	4	26,484,379 - 26,493,404 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	4	26,466,670 - 26,475,758 (-)	NCBI		T2T-CHM13v2.0

Cckar
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	5	53,855,827 - 53,865,046 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	5	53,855,118 - 53,865,047 (-)	Ensembl		GRCm39 Ensembl
GRCm38	5	53,698,485 - 53,707,704 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	5	53,697,776 - 53,707,705 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	5	54,089,724 - 54,098,943 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	5	53,986,735 - 53,996,350 (-)	NCBI		MGSCv36	mm8
Celera	5	51,081,684 - 51,090,889 (-)	NCBI		Celera
Cytogenetic Map	5	C1	NCBI
cM Map	5	29.52	NCBI

Cckar
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	14	61,505,270 - 61,513,618 (+)	NCBI		GRCr8
mRatBN7.2	14	57,292,397 - 57,300,747 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	14	57,292,397 - 57,300,747 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	14	61,699,304 - 61,707,579 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	14	63,001,655 - 63,009,913 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	14	59,398,438 - 59,406,696 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	14	59,610,939 - 59,619,786 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	14	59,611,434 - 59,619,783 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	14	59,691,504 - 59,747,723 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	14	62,052,510 - 62,057,201 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	14	62,054,843 - 62,064,735 (+)	NCBI
Celera	14	56,400,364 - 56,408,663 (+)	NCBI		Celera
RH 3.4 Map	14	455.67	RGD
Cytogenetic Map	14	q11	NCBI

Cckar
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955443	18,737,974 - 18,748,727 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955443	18,738,029 - 18,748,684 (+)	NCBI	ChiLan1.0	ChiLan1.0

CCKAR
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	3	26,733,119 - 26,745,226 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	4	26,924,864 - 26,936,971 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	4	20,881,340 - 20,890,986 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	4	26,157,702 - 26,166,773 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	4	26,157,702 - 26,166,773 (-)	Ensembl	panpan1.1		panPan2

CCKAR
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	3	84,010,700 - 84,019,066 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	3	84,010,205 - 84,021,293 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	3	86,523,114 - 86,531,436 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	3	84,979,595 - 84,989,334 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	3	84,978,882 - 84,990,505 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	3	84,102,638 - 84,110,963 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	3	84,222,497 - 84,230,820 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	3	84,607,068 - 84,615,397 (+)	NCBI		UU_Cfam_GSD_1.0

Cckar
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405285	49,605,282 - 49,613,370 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936477	3,306,874 - 3,314,714 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936477	3,306,898 - 3,314,659 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CCKAR
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	8	20,188,830 - 20,199,344 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	8	20,187,324 - 20,200,273 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	8	20,563,652 - 20,574,944 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CCKAR
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	27	23,855,766 - 23,866,104 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	27	23,856,705 - 23,865,367 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666047	70,369,554 - 70,378,492 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Cckar
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624755	6,121,620 - 6,132,897 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624755	6,122,181 - 6,132,623 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in CCKAR
31 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_000730.3(CCKAR):c.61G>C (p.Gly21Arg)	single nucleotide variant	CHOLECYSTOKININ A RECEPTOR POLYMORPHISM [RCV000019081]\|not provided [RCV004715645]	Chr4:26490207 [GRCh38] Chr4:26491829 [GRCh37] Chr4:4p15.2	benign
NM_000730.3(CCKAR):c.1093G>A (p.Val365Ile)	single nucleotide variant	CHOLECYSTOKININ A RECEPTOR POLYMORPHISM [RCV000019082]\|not provided [RCV004715646]	Chr4:26481832 [GRCh38] Chr4:26481832..26481833 [GRCh38] Chr4:26483454 [GRCh37] Chr4:26483454..26483455 [GRCh37] Chr4:4p15.2	benign
NM_000730.2(CCKAR):c.365-1571T>C	single nucleotide variant	Lung cancer [RCV000094597]	Chr4:26487469 [GRCh38] Chr4:26489091 [GRCh37] Chr4:4p15.2	uncertain significance
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	copy number loss	See cases [RCV000051642]	Chr4:72555..28066309 [GRCh38] Chr4:72447..28067931 [GRCh37] Chr4:62447..27677029 [NCBI36] Chr4:4p16.3-15.1	pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]\|See cases [RCV000051752]	Chr4:51519..26519788 [GRCh38] Chr4:51413..26521410 [GRCh37] Chr4:41413..26130508 [NCBI36] Chr4:4p16.3-15.2	pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	copy number gain	See cases [RCV000051753]	Chr4:72555..33130620 [GRCh38] Chr4:72447..33132242 [GRCh37] Chr4:62447..32808637 [NCBI36] Chr4:4p16.3-15.1	pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	copy number gain	See cases [RCV000051757]	Chr4:85149..38700366 [GRCh38] Chr4:85040..38701987 [GRCh37] Chr4:75040..38378382 [NCBI36] Chr4:4p16.3-14	pathogenic
GRCh38/hg38 4p15.31-15.2(chr4:21056309-26732162)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053263]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053263]\|See cases [RCV000053263]	Chr4:21056309..26732162 [GRCh38] Chr4:21057932..26733784 [GRCh37] Chr4:20667030..26342882 [NCBI36] Chr4:4p15.31-15.2	pathogenic
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	copy number gain	See cases [RCV000133677]	Chr4:72555..39477144 [GRCh38] Chr4:72447..39478764 [GRCh37] Chr4:62447..39155159 [NCBI36] Chr4:4p16.3-14	pathogenic
GRCh38/hg38 4p15.2(chr4:23862000-27685546)x1	copy number loss	See cases [RCV000135404]	Chr4:23862000..27685546 [GRCh38] Chr4:23863623..27687168 [GRCh37] Chr4:23472721..27296266 [NCBI36] Chr4:4p15.2	pathogenic
GRCh38/hg38 4p15.32-15.1(chr4:16925022-32113076)x1	copy number loss	See cases [RCV000135806]	Chr4:16925022..32113076 [GRCh38] Chr4:16926645..32114698 [GRCh37] Chr4:16535743..31758596 [NCBI36] Chr4:4p15.32-15.1	pathogenic\|likely pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	copy number gain	See cases [RCV000137261]	Chr4:36424..47491595 [GRCh38] Chr4:36424..47493612 [GRCh37] Chr4:26424..47188369 [NCBI36] Chr4:4p16.3-12	pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	copy number loss	See cases [RCV000240003]	Chr4:71552..29006745 [GRCh37] Chr4:4p16.3-15.1	pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	copy number gain	See cases [RCV000240562]	Chr4:12440..49064044 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	copy number gain	not specified [RCV003986479]	Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p15.2-15.1(chr4:23458442-29252060)x1	copy number loss	See cases [RCV000240221]	Chr4:23458442..29252060 [GRCh37] Chr4:4p15.2-15.1	pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	copy number gain	See cases [RCV002292704]	Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3	copy number gain	See cases [RCV000446451]	Chr4:68345..49093788 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	copy number gain	See cases [RCV000446653]	Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p15.2-15.1(chr4:23790131-32302608)x1	copy number loss	See cases [RCV000445756]	Chr4:23790131..32302608 [GRCh37] Chr4:4p15.2-15.1	likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	copy number gain	See cases [RCV000510453]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	copy number gain	See cases [RCV000511193]	Chr4:68345..66440622 [GRCh37] Chr4:4p16.3-q13.1	pathogenic
NM_000730.3(CCKAR):c.1202G>A (p.Gly401Glu)	single nucleotide variant	not specified [RCV004325115]	Chr4:26481723 [GRCh38] Chr4:26483345 [GRCh37] Chr4:4p15.2	uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	copy number gain	See cases [RCV000512241]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	copy number gain	not provided [RCV000682363]	Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1	copy number loss	not provided [RCV000682373]	Chr4:4165334..33324781 [GRCh37] Chr4:4p16.3-15.1	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3	copy number gain	not provided [RCV000743155]	Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3	copy number gain	not provided [RCV000743156]	Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3	copy number gain	not provided [RCV000743147]	Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3	copy number gain	not provided [RCV000743201]	Chr4:1356924..49659859 [GRCh37] Chr4:4p16.3-11	pathogenic
NM_000730.3(CCKAR):c.651C>T (p.Leu217=)	single nucleotide variant	not provided [RCV000937755]	Chr4:26483259 [GRCh38] Chr4:26484881 [GRCh37] Chr4:4p15.2	likely benign
GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141)	copy number loss	not provided [RCV000767707]	Chr4:12778849..27760141 [GRCh37] Chr4:4p15.33-15.1	pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	copy number gain	not provided [RCV001005510]	Chr4:68345..27423424 [GRCh37] Chr4:4p16.3-15.2	pathogenic
GRCh37/hg19 4p15.31-15.1(chr4:20406475-29134345)x1	copy number loss	not provided [RCV001005527]	Chr4:20406475..29134345 [GRCh37] Chr4:4p15.31-15.1	pathogenic
GRCh37/hg19 4p15.2(chr4:26326650-27059065)x3	copy number gain	not provided [RCV001259841]	Chr4:26326650..27059065 [GRCh37] Chr4:4p15.2	uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	copy number gain	not provided [RCV001537928]	Chr4:69671..29702595 [GRCh37] Chr4:4p16.3-15.1	pathogenic
GRCh37/hg19 4p15.2-15.1(chr4:23790131-32302608)	copy number loss	not specified [RCV002053411]	Chr4:23790131..32302608 [GRCh37] Chr4:4p15.2-15.1	likely pathogenic
GRCh37/hg19 4p15.31-14(chr4:19892850-37325128)	copy number loss	not specified [RCV002053409]	Chr4:19892850..37325128 [GRCh37] Chr4:4p15.31-14	pathogenic
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	copy number gain	FETAL DEMISE [RCV002282978]	Chr4:114784..47569569 [GRCh37] Chr4:4p16.3-12	pathogenic
NM_000730.3(CCKAR):c.893G>T (p.Ser298Ile)	single nucleotide variant	not specified [RCV004214095]	Chr4:26482032 [GRCh38] Chr4:26483654 [GRCh37] Chr4:4p15.2	uncertain significance
NM_000730.3(CCKAR):c.1099C>A (p.Pro367Thr)	single nucleotide variant	not specified [RCV004129338]	Chr4:26481826 [GRCh38] Chr4:26483448 [GRCh37] Chr4:4p15.2	uncertain significance
NM_000730.3(CCKAR):c.524C>T (p.Pro175Leu)	single nucleotide variant	not specified [RCV004194688]	Chr4:26485739 [GRCh38] Chr4:26487361 [GRCh37] Chr4:4p15.2	uncertain significance
NM_000730.3(CCKAR):c.68A>G (p.Glu23Gly)	single nucleotide variant	not specified [RCV004135075]	Chr4:26490200 [GRCh38] Chr4:26491822 [GRCh37] Chr4:4p15.2	uncertain significance
NM_000730.3(CCKAR):c.425C>T (p.Ala142Val)	single nucleotide variant	not specified [RCV004074306]	Chr4:26485838 [GRCh38] Chr4:26487460 [GRCh37] Chr4:4p15.2	uncertain significance
NM_000730.3(CCKAR):c.632C>G (p.Thr211Arg)	single nucleotide variant	not specified [RCV004121521]	Chr4:26483278 [GRCh38] Chr4:26484900 [GRCh37] Chr4:4p15.2	uncertain significance
NM_000730.3(CCKAR):c.570C>A (p.Asn190Lys)	single nucleotide variant	not specified [RCV004146431]	Chr4:26485693 [GRCh38] Chr4:26487315 [GRCh37] Chr4:4p15.2	uncertain significance
NM_000730.3(CCKAR):c.1021G>A (p.Ala341Thr)	single nucleotide variant	not specified [RCV004241719]	Chr4:26481904 [GRCh38] Chr4:26483526 [GRCh37] Chr4:4p15.2	uncertain significance
NM_000730.3(CCKAR):c.575C>T (p.Thr192Ile)	single nucleotide variant	not specified [RCV004231826]	Chr4:26485688 [GRCh38] Chr4:26487310 [GRCh37] Chr4:4p15.2	uncertain significance
NM_000730.3(CCKAR):c.799G>A (p.Asp267Asn)	single nucleotide variant	not specified [RCV004189847]	Chr4:26482126 [GRCh38] Chr4:26483748 [GRCh37] Chr4:4p15.2	uncertain significance
NM_000730.3(CCKAR):c.694A>G (p.Ile232Val)	single nucleotide variant	not specified [RCV004168394]	Chr4:26483216 [GRCh38] Chr4:26484838 [GRCh37] Chr4:4p15.2	uncertain significance
GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	copy number loss	4p partial monosomy syndrome [RCV003155905]	Chr4:11399082..38137335 [GRCh38] Chr4:4p15.33-14	pathogenic
NM_000730.3(CCKAR):c.796A>G (p.Ser266Gly)	single nucleotide variant	not specified [RCV004252177]	Chr4:26482129 [GRCh38] Chr4:26483751 [GRCh37] Chr4:4p15.2	uncertain significance
NM_000730.3(CCKAR):c.1085C>A (p.Ser362Tyr)	single nucleotide variant	not specified [RCV004272654]	Chr4:26481840 [GRCh38] Chr4:26483462 [GRCh37] Chr4:4p15.2	uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	copy number gain	4p16.3 microduplication syndrome [RCV003319592]	Chr4:68345..34512694 [GRCh37] Chr4:4p16.3-15.1	pathogenic
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	copy number gain	Neurodevelopmental disorder [RCV003327613]	Chr4:85624..57073230 [GRCh38] Chr4:4p16.3-q12	pathogenic
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	copy number gain	Neurodevelopmental disorder [RCV003327611]	Chr4:1..49062177 [GRCh38] Chr4:4p16.3-11	pathogenic
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	copy number gain	Neurodevelopmental disorder [RCV003327612]	Chr4:2904667..42963232 [GRCh38] Chr4:4p16.3-13	pathogenic
NM_000730.3(CCKAR):c.979A>G (p.Met327Val)	single nucleotide variant	not specified [RCV004346454]	Chr4:26481946 [GRCh38] Chr4:26483568 [GRCh37] Chr4:4p15.2	uncertain significance
NM_000730.3(CCKAR):c.379G>A (p.Val127Ile)	single nucleotide variant	not specified [RCV004359051]	Chr4:26485884 [GRCh38] Chr4:26487506 [GRCh37] Chr4:4p15.2	uncertain significance
NM_000730.3(CCKAR):c.353C>T (p.Thr118Ile)	single nucleotide variant	not specified [RCV004430514]	Chr4:26489244 [GRCh38] Chr4:26490866 [GRCh37] Chr4:4p15.2	uncertain significance
NM_000730.3(CCKAR):c.1262T>A (p.Met421Lys)	single nucleotide variant	not specified [RCV004430511]	Chr4:26481663 [GRCh38] Chr4:26483285 [GRCh37] Chr4:4p15.2	uncertain significance
NM_000730.3(CCKAR):c.796A>T (p.Ser266Cys)	single nucleotide variant	not specified [RCV004430516]	Chr4:26482129 [GRCh38] Chr4:26483751 [GRCh37] Chr4:4p15.2	uncertain significance
NM_000730.3(CCKAR):c.109A>G (p.Lys37Glu)	single nucleotide variant	not specified [RCV004430510]	Chr4:26490159 [GRCh38] Chr4:26491781 [GRCh37] Chr4:4p15.2	uncertain significance
NM_000730.3(CCKAR):c.163A>G (p.Ser55Gly)	single nucleotide variant	not specified [RCV004430512]	Chr4:26489434 [GRCh38] Chr4:26491056 [GRCh37] Chr4:4p15.2	uncertain significance
NM_000730.3(CCKAR):c.284T>C (p.Met95Thr)	single nucleotide variant	not specified [RCV004430513]	Chr4:26489313 [GRCh38] Chr4:26490935 [GRCh37] Chr4:4p15.2	uncertain significance
NM_000730.3(CCKAR):c.994G>A (p.Ala332Thr)	single nucleotide variant	not specified [RCV004430517]	Chr4:26481931 [GRCh38] Chr4:26483553 [GRCh37] Chr4:4p15.2	uncertain significance
NM_000730.3(CCKAR):c.999C>A (p.Asn333Lys)	single nucleotide variant	not specified [RCV004430518]	Chr4:26481926 [GRCh38] Chr4:26483548 [GRCh37] Chr4:4p15.2	uncertain significance
NM_000730.3(CCKAR):c.449G>C (p.Arg150Pro)	single nucleotide variant	not specified [RCV004430515]	Chr4:26485814 [GRCh38] Chr4:26487436 [GRCh37] Chr4:4p15.2	uncertain significance
NC_000004.11:g.(?_25125553)_(26492222_?)dup	duplication	not provided [RCV004580842]	Chr4:25125553..26492222 [GRCh37] Chr4:4p15.2	uncertain significance
NM_000730.3(CCKAR):c.265A>G (p.Met89Val)	single nucleotide variant	not specified [RCV004604749]	Chr4:26489332 [GRCh38] Chr4:26490954 [GRCh37] Chr4:4p15.2	uncertain significance
NM_000730.3(CCKAR):c.950T>C (p.Val317Ala)	single nucleotide variant	not specified [RCV004604748]	Chr4:26481975 [GRCh38] Chr4:26483597 [GRCh37] Chr4:4p15.2	uncertain significance
NM_000730.3(CCKAR):c.1034G>A (p.Arg345His)	single nucleotide variant	not specified [RCV004335568]	Chr4:26481891 [GRCh38] Chr4:26483513 [GRCh37] Chr4:4p15.2	uncertain significance
GRCh37/hg19 4p15.2(chr4:26431386-26489057)x3	copy number gain	not provided [RCV000743456]	Chr4:26431386..26489057 [GRCh37] Chr4:4p15.2	benign
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3	copy number gain	not provided [RCV000743154]	Chr4:49450..46339070 [GRCh37] Chr4:4p16.3-12	pathogenic
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	copy number gain	See cases [RCV001194594]	Chr4:49450..49620898 [GRCh37] Chr4:4p16.3-11	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	259
Count of miRNA genes:	219
Interacting mature miRNAs:	240
Transcripts:	ENST00000295589
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
407042365	GWAS691341_H	post-traumatic stress disorder QTL GWAS691341 (human)		0.000001	post-traumatic stress disorder		4	26481832	26481833	Human
407062908	GWAS711884_H	primary aldosteronism QTL GWAS711884 (human)		0.0000006	primary aldosteronism		4	26489534	26489535	Human

Markers in Region

STS-L19315

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	26,483,252 - 26,483,430	UniSTS	GRCh37
Build 36	4	26,092,350 - 26,092,528	RGD	NCBI36
Celera	4	26,934,309 - 26,934,487	RGD
Cytogenetic Map	4	p15.1-p15.2	UniSTS
HuRef	4	25,821,525 - 25,821,703	UniSTS
GeneMap99-GB4 RH Map	4	107.98	UniSTS

SHGC-50173

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	26,483,051 - 26,483,165	UniSTS	GRCh37
Build 36	4	26,092,149 - 26,092,263	RGD	NCBI36
Celera	4	26,934,108 - 26,934,222	RGD
Cytogenetic Map	4	p15.1-p15.2	UniSTS
HuRef	4	25,821,324 - 25,821,438	UniSTS
TNG Radiation Hybrid Map	4	16348.0	UniSTS

D4S3157

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	26,483,035 - 26,483,259	UniSTS	GRCh37
Build 36	4	26,092,133 - 26,092,357	RGD	NCBI36
Celera	4	26,934,092 - 26,934,316	RGD
Cytogenetic Map	4	p15.1-p15.2	UniSTS
HuRef	4	25,821,308 - 25,821,532	UniSTS
Stanford-G3 RH Map	4	1601.0	UniSTS
Whitehead-YAC Contig Map	4		UniSTS
NCBI RH Map	4	282.6	UniSTS
GeneMap99-G3 RH Map	4	1585.0	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
167	1787	285	497	2321	429	430	152	177	30	301	1642	1505	29	2099	265	835	324	126

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_012053	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_000730	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC093637	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH003369	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313978	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY322549	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC074987	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471069	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068274	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D85606	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L13605	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L19315	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000295589 ⟹ ENSP00000295589

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	26,481,396 - 26,490,484 (-)	Ensembl

RefSeq Acc Id:

NM_000730 ⟹ NP_000721

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	26,481,396 - 26,490,484 (-)	NCBI
GRCh37	4	26,483,018 - 26,492,042 (-)	ENTREZGENE
Build 36	4	26,092,116 - 26,101,140 (-)	NCBI Archive
HuRef	4	25,821,291 - 25,830,315 (-)	ENTREZGENE
CHM1_1	4	26,484,379 - 26,493,404 (-)	NCBI
T2T-CHM13v2.0	4	26,466,670 - 26,475,758 (-)	NCBI

Sequence:

show sequence

ACTGCCTTTTCCACAACAGGAGTACAAATGCTGGAGTGAGTGAGGTGAACTCAAGTCGCCTTTA
GGAATGGCTGAAAAAGCCCACACCTGGAAATCACTCCCTCCCTGCTCCTCCACGGCAGGTTGCA
TCTGCGAGACGCTTCGGTCATTAGAGGAATGAGCCGGGAGTGAGCAATTCACCAGCTCTCCAGC
ACTTGGTGGAAAGCAGCAGGCAAGGATGGATGTGGTTGACAGCCTTCTTGTGAATGGAAGCAAC
ATCACTCCTCCCTGTGAACTCGGGCTCGAAAATGAGACGCTTTTCTGCTTGGATCAGCCCCGTC
CTTCCAAAGAGTGGCAGCCAGCGGTGCAGATTCTCTTGTACTCCTTGATATTCCTGCTCAGCGT
GCTGGGAAACACGCTGGTCATCACCGTGCTGATTCGGAACAAGCGGATGCGGACGGTCACCAAC
ATCTTCCTCCTCTCCCTGGCTGTCAGCGACCTCATGCTCTGTCTCTTCTGCATGCCGTTCAACC
TCATCCCCAATCTGCTCAAGGATTTCATCTTCGGGAGCGCCGTTTGCAAGACCACCACCTACTT
CATGGGCACCTCTGTGAGTGTATCTACCTTTAATCTGGTAGCCATATCTCTAGAGAGATATGGT
GCGATTTGCAAACCCTTACAGTCCCGGGTCTGGCAGACAAAATCCCATGCTTTGAAGGTGATTG
CTGCTACCTGGTGCCTTTCCTTTACCATCATGACTCCGTACCCCATTTATAGCAACTTGGTGCC
TTTTACCAAAAATAACAACCAGACCGCGAATATGTGCCGCTTTCTACTGCCAAATGATGTTATG
CAGCAGTCCTGGCACACATTCCTGTTACTCATCCTCTTTCTTATTCCTGGAATTGTGATGATGG
TGGCATATGGATTAATCTCTTTGGAACTCTACCAGGGAATAAAATTTGAGGCTAGCCAGAAGAA
GTCTGCTAAAGAAAGGAAACCTAGCACCACCAGCAGCGGCAAATATGAGGACAGCGATGGGTGT
TACCTGCAAAAGACCAGGCCCCCGAGGAAGCTGGAGCTCCGGCAGCTGTCCACCGGCAGCAGCA
GCAGGGCCAACCGCATCCGGAGTAACAGCTCCGCAGCCAACCTGATGGCCAAGAAAAGGGTGAT
CCGCATGCTCATCGTCATCGTGGTCCTCTTCTTCCTGTGCTGGATGCCCATCTTCAGCGCCAAC
GCCTGGCGGGCCTACGACACCGCCTCCGCAGAGCGCCGCCTCTCAGGAACCCCCATTTCCTTCA
TCCTCCTCCTGTCCTACACCTCCTCCTGCGTCAACCCCATCATCTACTGCTTCATGAACAAACG
CTTCCGCCTCGGCTTCATGGCCACCTTCCCCTGCTGCCCCAATCCTGGTCCCCCAGGGGCGAGG
GGAGAGGTGGGGGAGGAGGAGGAAGGCGGGACCACAGGAGCCTCTCTGTCCAGGTTCTCGTACA
GCCATATGAGTGCCTCGGTGCCACCCCAGTGAGATGTCCCCTGACCCTCCACCGCAGAAGGAAG
GCAGGGAGGAGGCAGAGAAGAAAGAACGGAAGAAGAGATCAGGAAGAGAAGGAGCAGAGCTGAT
GGAGAAGGAAGGCTCCATCTCCAGTGGGAACTCTTCAAGGTCTGCTTTTCATCCTTCATCTGGA
TTCCAGAGCACTGCTCCAGTGGGGCCATGATTGGTTTCTAGGCAGTTCAAAGCAGGATATGTTA
AGTAACACTCACCATCAG

hide sequence

Protein Sequences


Protein RefSeqs	NP_000721	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA02819	(Get FASTA)	NCBI Sequence Viewer
	AAA35659	(Get FASTA)	NCBI Sequence Viewer
	AAA91123	(Get FASTA)	NCBI Sequence Viewer
	AAH74987	(Get FASTA)	NCBI Sequence Viewer
	AAP84362	(Get FASTA)	NCBI Sequence Viewer
	BAA90879	(Get FASTA)	NCBI Sequence Viewer
	BAG36692	(Get FASTA)	NCBI Sequence Viewer
	EAW92850	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000295589
	ENSP00000295589.3
GenBank Protein	P32238	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_000721 ⟸ NM_000730

- UniProtKB:

B2R9Z5 (UniProtKB/Swiss-Prot), P32238 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MDVVDSLLVNGSNITPPCELGLENETLFCLDQPRPSKEWQPAVQILLYSLIFLLSVLGNTLVIT
VLIRNKRMRTVTNIFLLSLAVSDLMLCLFCMPFNLIPNLLKDFIFGSAVCKTTTYFMGTSVSVS
TFNLVAISLERYGAICKPLQSRVWQTKSHALKVIAATWCLSFTIMTPYPIYSNLVPFTKNNNQT
ANMCRFLLPNDVMQQSWHTFLLLILFLIPGIVMMVAYGLISLELYQGIKFEASQKKSAKERKPS
TTSSGKYEDSDGCYLQKTRPPRKLELRQLSTGSSSRANRIRSNSSAANLMAKKRVIRMLIVIVV
LFFLCWMPIFSANAWRAYDTASAERRLSGTPISFILLLSYTSSCVNPIIYCFMNKRFRLGFMAT
FPCCPNPGPPGARGEVGEEEEGGTTGASLSRFSYSHMSASVPPQ

hide sequence

Ensembl Acc Id:

ENSP00000295589 ⟸ ENST00000295589

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P32238-F1-model_v2	AlphaFold	P32238	1-428	view protein structure

Promoters

RGD ID:

6867184

Promoter ID:

EPDNEW_H6757

Type:

initiation region

Name:

CCKAR_1

Description:

cholecystokinin A receptor

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	26,490,431 - 26,490,491	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:1570	AgrOrtholog
COSMIC	CCKAR	COSMIC
Ensembl Genes	ENSG00000163394	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000295589	ENTREZGENE
	ENST00000295589.4	UniProtKB/Swiss-Prot
Gene3D-CATH	4.10.670.10	UniProtKB/Swiss-Prot
	Rhodopsin 7-helix transmembrane proteins	UniProtKB/Swiss-Prot
GTEx	ENSG00000163394	GTEx
HGNC ID	HGNC:1570	ENTREZGENE
Human Proteome Map	CCKAR	Human Proteome Map
InterPro	Cholcskin_rcpt	UniProtKB/Swiss-Prot
	Cholcy_rcpt_A	UniProtKB/Swiss-Prot
	CholecystokininA_recpt_N	UniProtKB/Swiss-Prot
	CholecystokininA_recpt_N_sf	UniProtKB/Swiss-Prot
	GPCR_Rhodpsn	UniProtKB/Swiss-Prot
	GPCR_Rhodpsn_7TM	UniProtKB/Swiss-Prot
KEGG Report	hsa:886	UniProtKB/Swiss-Prot
NCBI Gene	886	ENTREZGENE
OMIM	118444	OMIM
PANTHER	CHOLECYSTOKININ RECEPTOR TYPE A	UniProtKB/Swiss-Prot
	G-PROTEIN COUPLED RECEPTOR	UniProtKB/Swiss-Prot
Pfam	7tm_1	UniProtKB/Swiss-Prot
	CholecysA-Rec_N	UniProtKB/Swiss-Prot
PharmGKB	PA26142	PharmGKB
PRINTS	CCYSTOKININR	UniProtKB/Swiss-Prot
	CCYSTOKNINAR	UniProtKB/Swiss-Prot
	GPCRRHODOPSN	UniProtKB/Swiss-Prot
PROSITE	G_PROTEIN_RECEP_F1_1	UniProtKB/Swiss-Prot
	G_PROTEIN_RECEP_F1_2	UniProtKB/Swiss-Prot
SMART	7TM_GPCR_Srsx	UniProtKB/Swiss-Prot
Superfamily-SCOP	Family A G protein-coupled receptor-like	UniProtKB/Swiss-Prot
UniProt	B2R9Z5	ENTREZGENE
	CCKAR_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary	B2R9Z5	UniProtKB/Swiss-Prot

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - CTD

Manual Human Phenotype Annotations - RGD

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Imported Disease Annotations - CTD

Manual Human Phenotype Annotations - RGD